Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	163175
Gene name	Leucine rich repeat LGI family member 4
Gene symbol	LGI4
Synonyms (NCBI Gene)	AMC1AMCNMYLGIL3
Chromosome	19
Chromosome location	19q13.12\|19q13.11

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201728190	C>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs755500591	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs775997446	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs779232987	C>T	Pathogenic	Missense variant, coding sequence variant
rs1064797093	C>G	Pathogenic	Intron variant
rs1064797094	A>T	Pathogenic	Coding sequence variant, missense variant
rs1064797095	C>A,T	Pathogenic	Intron variant
rs1201430967	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1207534366	A>C,G	Pathogenic	Initiator codon variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs1366269616	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555733773	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555734932	A>C	Likely-pathogenic	5 prime UTR variant, upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1600470099	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (13)

miRTarBase ID	miRNA	Experiments
MIRT1108476	hsa-miR-198	CLIP-seq
MIRT1108477	hsa-miR-2964a-5p	CLIP-seq
MIRT1108478	hsa-miR-3684	CLIP-seq
MIRT2260864	hsa-miR-1250	CLIP-seq
MIRT2260865	hsa-miR-3649	CLIP-seq
MIRT2260866	hsa-miR-3929	CLIP-seq
MIRT2260867	hsa-miR-4419b	CLIP-seq
MIRT2260868	hsa-miR-4478	CLIP-seq
MIRT2260869	hsa-miR-4505	CLIP-seq
MIRT2260870	hsa-miR-4712-5p	CLIP-seq
MIRT2260871	hsa-miR-770-5p	CLIP-seq
MIRT2452988	hsa-miR-922	CLIP-seq
MIRT2683880	hsa-miR-4431	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0014009	Process	Glial cell proliferation	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0021782	Process	Glial cell development	IEA
GO:0022011	Process	Myelination in peripheral nervous system	IBA
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0031641	Process	Regulation of myelination	IEA
GO:0031641	Process	Regulation of myelination	IMP	28318499
GO:0042063	Process	Gliogenesis	IEA
GO:0042551	Process	Neuron maturation	IBA
GO:0042551	Process	Neuron maturation	IEA
GO:0042552	Process	Myelination	IEA

MIM	HGNC	e!Ensembl
608303	18712	ENSG00000153902

Q8N135

Protein name

Leucine-rich repeat LGI family member 4 (LGI1-like protein 3) (Leucine-rich glioma-inactivated protein 4)

Protein function

Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13855	LRR_8	52 → 112	Leucine rich repeat	Repeat
PF13855	LRR_8	101 → 160	Leucine rich repeat	Repeat
PF03736	EPTP	212 → 251	EPTP domain	Repeat
PF03736	EPTP	351 → 393	EPTP domain	Repeat
PF03736	EPTP	396 → 438	EPTP domain	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest expression in brain. {ECO:0000269|PubMed:12023020}.

Sequence

MGGAGILLLLLAGAGVVVAWRPPKGKCPLRCSCSKDSALCEGSPDLPVSFSPTLLSLSLV
RTGVTQLKAGSFLRIPSLHLLLFTSNSFSVIEDDAFAGLSHLQYLFIEDNEIGSISKNAL
RGLRSLTHLSLANNHLETLPRFLFRGLDTLTHVDLRGNPFQCDCRVLWLLQWMPTVNASV
GTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQP
FAGRCLILSWDYSLQRFRPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPSPG
LRLAPTQTLAPRRLLRPNDAELLWLEGQPCFVVADASKAGSTTLLCRDGPGFYPHQSLHA
WHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYATRHFQAGGD
VFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLR
LEPDKGLLEPLQELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA

Sequence length

537

Interactions

View interactions

	Reactome
			LGI-ADAM interactions

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis multiplex congenita	Likely pathogenic	rs1201430967	RCV000855466
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	Likely pathogenic; Pathogenic	rs2065139570, rs2513330090, rs2513320717, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs1366269616, rs1555734932, rs1600470099, rs2065136111, rs2065190797	RCV001844373 RCV003146992 RCV003153025 RCV000487489 RCV000487492 RCV000487486 RCV000487490 RCV000487493 RCV000487487 RCV000664223 RCV000664224 RCV000984971 RCV001251121 RCV001251122
Arthrogryposis multiplex congenita 2, neurogenic type	Pathogenic	rs1207534366	RCV000766216
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1201430967	RCV000855466

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Benign	rs12976269	RCV005925129
LGI4-related disorder	Benign; Uncertain significance; Likely benign	rs35849647, rs145856594, rs779516643, rs370620680, rs1271333075, rs752862334, rs376948182, rs759627930, rs146088588, rs148508572	RCV003975955 RCV003420637 RCV003907186 RCV003964529 RCV003911971 RCV003973902 RCV003951948 RCV003956760 RCV003950708 RCV003968354

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthrogryposis	Associate	28318499, 33820833
Carcinogenesis	Associate	12023020
Demyelinating Diseases	Associate	28318499
Pulmonary Disease Chronic Obstructive	Associate	27814717

LGI4 (leucine rich repeat LGI family member 4)